Fig. 6

MetaboAnalyst-based enrichment analysis of the key metabolic alterations in PMM2-deficient PBMCs. Enrichment and pathway analyses were performed using the actual concentrations of the different metabolites detected in control and PMM2-deficient PBMCs, processed through the MetaboAnalyst 6.0 platform. Specifically, the “Pathway Analysis” module within the enrichment analysis section was used to identify significantly impacted metabolic pathways. The analysis was performed using default parameters. Pathways with a p-value of less than 0.05 were considered significantly enriched, indicating potential areas of metabolic perturbation associated with the experimental conditions. Only the top 25 pathways significantly different from controls were considered in the figure.